Baya Wafa, Fredj Fatma Ben, Hassine Imen Ben, Anoun Jihed, Mzabi Anis, Karmani Monia, Rezgui Amel, Laatiri Mohamed Adnane, Kechrid Chedia Laouani
Université de Sousse, Faculté de Médecine de Sousse, Hôpital Sahloul, Service de Médecine Interne, Unité de Gérontologie et Gériatrie Clinique, 4000, Sousse, Tunisie.
Service d´Hématologie Clinique, Hôpital Universitaire Fattouma Bourguiba, Faculté de Médecine, Université de Monastir, 5019, Monastir, Tunisie.
Pan Afr Med J. 2020 Aug 28;36:367. doi: 10.11604/pamj.2020.36.367.25116. eCollection 2020.
Lysosomial diseases and autoimmune diseases are systemic disorders. Their clinical manifestations can overlap with the broad spectrum of one another. Their association has been rarely reported. We report a new case of systemic lupus erythematous (SLE) associated to antiphospholipid syndrome (APS) and Hashimoto thyroiditis occurring in Niemann-Pick disease (NPD) type B patient. A 42-year-old woman with a familial history of NPD was diagnosed with a NPD type B at the age of ten. Twenty years later (2008), she complained of inflammatory arthralgia with acute dyspnea. She was diagnosed with SLE (according to ACR criteria) and Hashimoto disease with positive IgG anti-cardiolipin and IgA anti-beta2 glycoprotein. In 2018, she presented a left segmental pulmonary embolism. Antiphospholipid syndrome was retained. She was treated with steroids, hydroxychloroquine, anticoagulation therapy and levothyroxine. Her SLE treatment was re-enforced by cyclophosphamide because of corticosteroid dependence and recurrent hemolytic crises.
溶酶体疾病和自身免疫性疾病是全身性疾病。它们的临床表现可能相互广泛重叠。它们之间的关联鲜有报道。我们报告了一例B型尼曼-匹克病（NPD）患者并发系统性红斑狼疮（SLE）、抗磷脂综合征（APS）和桥本甲状腺炎的新病例。一名有NPD家族史的42岁女性在10岁时被诊断为B型NPD。20年后（2008年），她出现炎性关节痛并伴有急性呼吸困难。她被诊断为SLE（根据美国风湿病学会标准）以及桥本氏病，IgG抗心磷脂和IgA抗β2糖蛋白呈阳性。2018年，她出现左肺节段性肺栓塞。确诊为抗磷脂综合征。她接受了类固醇、羟氯喹、抗凝治疗和左甲状腺素治疗。由于对皮质类固醇依赖和反复出现溶血危象，她的SLE治疗通过环磷酰胺得到加强。
